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Article

Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil.

Human biology - 1 Feb 1999

Raskin S, Phillips J A, Kaplan G, McClure M, Vnencak-Jones C, Rozov T, Cardieri J M, Marostica P, Abreu F, Giugliani R, Reis F, Rosario N A, Ludwig N, Pereira L, Faucz F, Gabardo J, Culpi L

Abstract excerpt

Cystic fibrosis (CF) is an autosomal recessive disease caused by at least 750 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The frequency of the most common mutation (DF508) in Brazilian patients of European origin is 47%. To determine the frequency of 4 other common CF mutations (G542X, G551D, R553X, and N1303K) in Brazilian patients of European origin, we used...

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Identifiers

PMID: 9972102

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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